Incidental Mutation 'R1628:Papln'
ID 172634
Institutional Source Beutler Lab
Gene Symbol Papln
Ensembl Gene ENSMUSG00000021223
Gene Name papilin, proteoglycan-like sulfated glycoprotein
Synonyms E030033C16Rik
MMRRC Submission 039665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1628 (G1)
Quality Score 221
Status Validated
Chromosome 12
Chromosomal Location 83810408-83839156 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 83831180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000121733]
AlphaFold Q9EPX2
Predicted Effect probably benign
Transcript: ENSMUST00000021646
SMART Domains Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TSP1 30 81 3.36e-11 SMART
low complexity region 147 161 N/A INTRINSIC
Pfam:ADAM_spacer1 184 299 3.3e-39 PFAM
TSP1 309 362 1.2e-7 SMART
TSP1 366 426 2.76e-7 SMART
TSP1 427 482 1.42e-9 SMART
TSP1 488 540 2.47e-9 SMART
low complexity region 604 621 N/A INTRINSIC
KU 748 801 1.83e-22 SMART
low complexity region 822 831 N/A INTRINSIC
IGc2 917 980 2.88e-4 SMART
IGc2 1056 1119 2.66e-17 SMART
IGc2 1145 1209 2.13e-7 SMART
Pfam:PLAC 1234 1268 2.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121733
SMART Domains Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
TSP1 30 81 3.36e-11 SMART
low complexity region 147 161 N/A INTRINSIC
Pfam:ADAM_spacer1 184 299 2.8e-38 PFAM
TSP1 309 362 1.2e-7 SMART
TSP1 388 448 1.82e-7 SMART
TSP1 449 504 1.42e-9 SMART
TSP1 510 562 2.47e-9 SMART
low complexity region 626 643 N/A INTRINSIC
KU 770 823 1.83e-22 SMART
Pfam:Papilin_u7 831 922 1.9e-40 PFAM
IGc2 939 1002 2.88e-4 SMART
IGc2 1078 1141 2.66e-17 SMART
IGc2 1167 1231 2.13e-7 SMART
Pfam:PLAC 1257 1289 1.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152904
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C T 17: 84,999,419 (GRCm39) Q172* probably null Het
AI467606 G A 7: 126,691,755 (GRCm39) G110D probably benign Het
Arhgef15 A C 11: 68,835,640 (GRCm39) L805R possibly damaging Het
B3galnt1 G A 3: 69,482,961 (GRCm39) T100I probably damaging Het
Bod1l T A 5: 41,974,325 (GRCm39) M2330L probably benign Het
Calcr A T 6: 3,700,251 (GRCm39) H280Q possibly damaging Het
Camk1d T C 2: 5,315,848 (GRCm39) D263G probably damaging Het
Cd48 T A 1: 171,532,420 (GRCm39) I233N probably damaging Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dapk3 C A 10: 81,027,643 (GRCm39) T227K possibly damaging Het
Dnajc22 A G 15: 98,998,817 (GRCm39) M1V probably null Het
Etv5 C T 16: 22,220,421 (GRCm39) probably null Het
Gabrr1 A G 4: 33,152,432 (GRCm39) Y124C probably damaging Het
Gba2 C T 4: 43,570,118 (GRCm39) R392Q probably benign Het
Gli3 C G 13: 15,900,897 (GRCm39) A1428G probably benign Het
Gls G A 1: 52,271,835 (GRCm39) A106V probably benign Het
Gm21370 A G 13: 120,488,414 (GRCm39) V45A possibly damaging Het
Gpr4 A G 7: 18,957,124 (GRCm39) T349A probably benign Het
Gpr6 C T 10: 40,947,544 (GRCm39) V13M possibly damaging Het
Gvin3 A T 7: 106,202,476 (GRCm39) L256* probably null Het
Hectd3 A G 4: 116,854,589 (GRCm39) H345R probably damaging Het
Igfl3 A T 7: 17,914,232 (GRCm39) K135N probably benign Het
Il23r A G 6: 67,400,593 (GRCm39) L579S probably damaging Het
Itsn2 A C 12: 4,679,652 (GRCm39) M154L probably benign Het
Junb T A 8: 85,705,039 (GRCm39) Q7L possibly damaging Het
Kif21b T A 1: 136,098,958 (GRCm39) H1415Q probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhdc10 T G 6: 30,444,461 (GRCm39) F79L probably damaging Het
Klk1b8 A G 7: 43,603,565 (GRCm39) probably null Het
Lmbrd2 T A 15: 9,182,593 (GRCm39) N509K probably damaging Het
Mctp2 A G 7: 71,861,337 (GRCm39) probably null Het
Myo3b A G 2: 70,117,306 (GRCm39) N913S probably benign Het
N4bp2 G A 5: 65,960,915 (GRCm39) probably null Het
Nt5c1a A G 4: 123,102,284 (GRCm39) E70G possibly damaging Het
Or12k5 A G 2: 36,894,738 (GRCm39) V296A probably damaging Het
Pcnx3 G T 19: 5,736,093 (GRCm39) S244R probably damaging Het
Pecam1 A T 11: 106,573,786 (GRCm39) probably null Het
Plppr4 A T 3: 117,121,921 (GRCm39) L219Q probably damaging Het
Ppp2r5b A G 19: 6,280,935 (GRCm39) probably null Het
Ralgapb A G 2: 158,272,383 (GRCm39) R146G probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rfpl4b T G 10: 38,697,530 (GRCm39) I24L probably benign Het
Serpinb1b G A 13: 33,277,637 (GRCm39) C290Y probably benign Het
Skic3 A G 13: 76,259,910 (GRCm39) E70G possibly damaging Het
Slc25a17 A G 15: 81,244,925 (GRCm39) S3P possibly damaging Het
Slc4a11 A C 2: 130,529,047 (GRCm39) probably null Het
Spata31e4 T C 13: 50,856,324 (GRCm39) L654P probably benign Het
Sptb A G 12: 76,630,622 (GRCm39) Y2231H probably damaging Het
Srgap1 T G 10: 121,706,244 (GRCm39) M221L probably benign Het
Srgap3 A G 6: 112,716,331 (GRCm39) L599P probably damaging Het
Svep1 C T 4: 58,107,561 (GRCm39) V1177M probably benign Het
Tarbp1 A G 8: 127,157,599 (GRCm39) F1303L possibly damaging Het
Tbxa2r T C 10: 81,170,341 (GRCm39) S276P possibly damaging Het
Try10 A T 6: 41,334,390 (GRCm39) D194V probably damaging Het
Ttc39c T C 18: 12,867,936 (GRCm39) probably benign Het
Ttc8 G A 12: 98,948,780 (GRCm39) V489M probably benign Het
Unc13b G T 4: 43,263,371 (GRCm39) R1912L probably damaging Het
Unc45b T A 11: 82,820,206 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,048 (GRCm39) Y292C probably damaging Het
Usp34 A G 11: 23,438,725 (GRCm39) D3429G probably damaging Het
Usp42 A G 5: 143,703,122 (GRCm39) S500P probably damaging Het
Vmn2r14 T C 5: 109,367,838 (GRCm39) M385V probably benign Het
Vmn2r60 G A 7: 41,785,830 (GRCm39) W211* probably null Het
Vwf A T 6: 125,624,701 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,918 (GRCm39) F3018I probably damaging Het
Wwox A G 8: 115,174,973 (GRCm39) T102A probably benign Het
Zfp142 A C 1: 74,611,047 (GRCm39) L813R possibly damaging Het
Zfp407 G A 18: 84,372,658 (GRCm39) T1670M probably damaging Het
Zfp93 A G 7: 23,974,282 (GRCm39) E89G probably benign Het
Zwint C T 10: 72,492,127 (GRCm39) Q18* probably null Het
Other mutations in Papln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Papln APN 12 83,817,210 (GRCm39) missense possibly damaging 0.81
IGL01788:Papln APN 12 83,822,236 (GRCm39) missense probably benign 0.32
IGL01889:Papln APN 12 83,833,609 (GRCm39) missense probably benign 0.25
IGL02499:Papln APN 12 83,827,445 (GRCm39) missense probably benign 0.00
IGL02567:Papln APN 12 83,825,611 (GRCm39) missense probably benign 0.00
IGL03150:Papln APN 12 83,829,758 (GRCm39) missense probably damaging 1.00
IGL03331:Papln APN 12 83,830,435 (GRCm39) missense probably benign
F5770:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
R0201:Papln UTSW 12 83,829,801 (GRCm39) splice site probably benign
R0389:Papln UTSW 12 83,830,153 (GRCm39) nonsense probably null
R0763:Papln UTSW 12 83,838,639 (GRCm39) missense possibly damaging 0.54
R1508:Papln UTSW 12 83,829,690 (GRCm39) missense probably damaging 0.99
R1920:Papln UTSW 12 83,836,028 (GRCm39) nonsense probably null
R1974:Papln UTSW 12 83,828,811 (GRCm39) missense probably damaging 0.98
R2004:Papln UTSW 12 83,819,992 (GRCm39) missense probably damaging 1.00
R2105:Papln UTSW 12 83,827,010 (GRCm39) missense probably benign 0.04
R2876:Papln UTSW 12 83,825,701 (GRCm39) missense probably damaging 0.96
R4199:Papln UTSW 12 83,830,166 (GRCm39) missense probably null 0.01
R4702:Papln UTSW 12 83,828,757 (GRCm39) missense probably benign 0.01
R4705:Papln UTSW 12 83,823,982 (GRCm39) splice site probably null
R4835:Papln UTSW 12 83,821,194 (GRCm39) missense probably damaging 0.99
R4874:Papln UTSW 12 83,823,917 (GRCm39) missense probably benign 0.01
R4938:Papln UTSW 12 83,829,677 (GRCm39) missense probably benign 0.35
R5000:Papln UTSW 12 83,821,663 (GRCm39) missense probably damaging 1.00
R5149:Papln UTSW 12 83,818,656 (GRCm39) splice site probably null
R5324:Papln UTSW 12 83,821,345 (GRCm39) missense probably damaging 1.00
R5784:Papln UTSW 12 83,828,754 (GRCm39) missense probably benign
R5881:Papln UTSW 12 83,818,652 (GRCm39) missense probably null 0.91
R5977:Papln UTSW 12 83,831,143 (GRCm39) nonsense probably null
R6035:Papln UTSW 12 83,821,454 (GRCm39) missense probably damaging 1.00
R6035:Papln UTSW 12 83,821,454 (GRCm39) missense probably damaging 1.00
R6291:Papln UTSW 12 83,829,789 (GRCm39) missense probably benign 0.01
R6461:Papln UTSW 12 83,828,587 (GRCm39) splice site probably null
R6536:Papln UTSW 12 83,828,661 (GRCm39) missense probably damaging 1.00
R6861:Papln UTSW 12 83,821,723 (GRCm39) missense probably damaging 1.00
R6898:Papln UTSW 12 83,824,234 (GRCm39) missense probably benign 0.03
R6953:Papln UTSW 12 83,828,659 (GRCm39) nonsense probably null
R7155:Papln UTSW 12 83,823,295 (GRCm39) missense probably damaging 1.00
R7450:Papln UTSW 12 83,826,945 (GRCm39) missense probably benign 0.13
R7510:Papln UTSW 12 83,818,947 (GRCm39) missense probably damaging 0.99
R7850:Papln UTSW 12 83,827,436 (GRCm39) missense probably damaging 1.00
R7977:Papln UTSW 12 83,822,156 (GRCm39) missense probably damaging 1.00
R7987:Papln UTSW 12 83,822,156 (GRCm39) missense probably damaging 1.00
R8321:Papln UTSW 12 83,821,715 (GRCm39) nonsense probably null
R8324:Papln UTSW 12 83,833,393 (GRCm39) missense probably damaging 1.00
R8466:Papln UTSW 12 83,825,255 (GRCm39) critical splice acceptor site probably null
R8743:Papln UTSW 12 83,829,764 (GRCm39) missense probably damaging 1.00
R8790:Papln UTSW 12 83,823,918 (GRCm39) missense probably benign 0.01
R9086:Papln UTSW 12 83,821,633 (GRCm39) missense probably damaging 1.00
R9291:Papln UTSW 12 83,825,284 (GRCm39) missense probably benign 0.01
R9350:Papln UTSW 12 83,833,638 (GRCm39) missense probably damaging 1.00
R9438:Papln UTSW 12 83,818,606 (GRCm39) missense probably benign
R9484:Papln UTSW 12 83,838,618 (GRCm39) missense probably benign 0.05
V7580:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
V7581:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
V7582:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
Z1088:Papln UTSW 12 83,823,150 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CGTTTAGTCAGCTAAGGTGGCAGG -3'
(R):5'- TGTCAACAGCAGCAATGGGAACC -3'

Sequencing Primer
(F):5'- CTTAACAACAGTGTTGGGGTC -3'
(R):5'- ATGGGAACCACCCAGGC -3'
Posted On 2014-04-24